rs397516123

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.2	Familial Hypertrophic Cardiomyopathy

Make rs397516123(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23427675

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs397516123
dbSNP (classic)	rs397516123
ClinGen	rs397516123
ebi	rs397516123
HLI	rs397516123
Exac	rs397516123
Gnomad	rs397516123
Varsome	rs397516123
LitVar	rs397516123
Map	rs397516123
PheGenI	rs397516123
Biobank	rs397516123
1000 genomes	rs397516123
hgdp	rs397516123
ensembl	rs397516123
geneview	rs397516123
scholar	rs397516123
google	rs397516123
pharmgkb	rs397516123
gwascentral	rs397516123
openSNP	rs397516123
23andMe	rs397516123
SNPshot	rs397516123
SNPdbe	rs397516123
MSV3d	rs397516123
GWAS Ctlg	rs397516123

Max Magnitude

6.2

ClinVar
Risk	rs397516123(T;T)
Alt	rs397516123(T;T)
Reference	Rs397516123(C;C)
Significance	Probable-Pathogenic
Disease	Primary dilated cardiomyopathy
Variation	info
Gene	MYH7
CLNDBN	Primary dilated cardiomyopathy
Reversed	1
HGVS	NC_000014.8:g.23896884G>A
CLNSRC	ClinVar
CLNACC	RCV000035749.3,